Center for Rare Disease Therapy

The Center for Rare Disease Therapy at Children’s Hospital of Pittsburgh of UPMC consists of international experts focused on treating children with rare diseases, defined by leading standards of care, pioneering protocols, and individualized services in a world-class environment.



Clinical Studies

  • Center for Rare Disease Therapy

    Children's Hospital of Pittsburgh of UPMC
    4401 Penn Avenue
    Pittsburgh, PA 15224
    412-692-RARE (7273)
  • Immunodeficiency and End-Stage Lung Disease Treatment

    Bilateral Orthotopic Lung Transplant in Tandem With CD3+ and CD19+ Cell Depleted Bone Marrow Transplant From Partially HLA-Matched Cadaveric Donors

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    Non-Malignant Marrow Disorder Treatment using Reduced Intensity Conditioning – Phase II

    Study of Reduced-Intensity Conditioning In Patients With Non-Malignant Disorders Undergoing Umbilical Cord, Bone Marrow, or Peripheral Blood Stem Cell Transplantation

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    Alpha-1 Antitrypsin Deficiency Study – Phase II

    A Preliminary Study of the Efficacy and Safety of Carbamazepine in Severe Liver Disease Due to Alpha-1-Antitrypsin Deficiency

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    Pancreatitis INSPPIRE Registry

    A Study of Acute Recurrent and Chronic Pancreatitis in Children by the International Study Group of Pediatric Pancreatitis In Search of a Cure (INSPPIRE)

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    Energy Metabolism Disorder Therapy Using Triheptanoin (C7)

    Dietary Therapy for Inherited Disorders of Energy Metabolism

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    Enzyme Deficiency Study

    Laboratory Study of Acyl-CoA Dehydrogenases

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    Krabbe Disease and Motor Impairment Identification Using MRI

    DTI as a Tool to Identify Infants with Krabbe Disease in Need of Urgent Treatment

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    Krabbe Disease Progression Study

    The Natural History of Infantile Globoid Cell Leukodystrophy

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    Metachromatic Leukodystrophy Progression Study

    Natural History Study of Children with Metachromatic Leukodystrophy

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